Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.
Bruedigam C et al.
Nature Cancer, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
Jung K et al.
Scientific Reports, 2022
Identification and molecular analysis of RNF31 Q622H germline polymorphism.
Nakazawa S et al.
Oncology Letters, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.
Dong L et al.
Cancer Biology & Medicine, 2021
Novel PHOX2B germline mutation in childhood medulloblastoma: a case report.
Ke C et al.
Hereditary Cancer in Clinical Practice, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.
Zhang Z et al.
World Journal of Gastroenterology, 2020
Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature.
Zhang L et al.
European Journal of Cancer (oxford, England : 1990), 2020
PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.
Cui MH et al.
Medicine, 2019
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
Wu B et al.
International Journal of Molecular Sciences, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.
Kiyozumi Y et al.
Cancer Medicine, 2019
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Toh MR et al.
Jnci Cancer Spectrum, 2018
Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.
Zhang X et al.
Oncology Letters, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.
Kim Y et al.
Oncotarget, 2017
Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.
Nakagaki T et al.
Oncotarget, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
High-risk epithelial ovarian cancer patients for hereditary ovarian cancer.
Chirasophon S et al.
The Journal of Obstetrics and Gynaecology Research, 2017
Genetic Analysis of Mismatch Repair Genes Alterations in Extramammary Paget Disease.
Kang Z et al.
The American Journal of Surgical Pathology, 2016
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.
Woo HI et al.
Gene, 2014
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
Zhu M et al.
Oncology Letters, 2013
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
Li D et al.
Plos One, 2013
Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.
Hu F et al.
Plos One, 2013
Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.
Wei W et al.
Journal of Bioinformatics and Computational Biology, 2010
A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.
Park SJ et al.
Cancer Genetics and Cytogenetics, 2008
Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.
Fan Y et al.
Cancer Genetics and Cytogenetics, 2006
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
Lee SC et al.
Clinical Genetics, 2005